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https://www.readbyqxmd.com/read/28329103/pregnancy-at-advanced-maternal-age-affects-behavior-and-hippocampal-gene-expression-in-mouse-offspring
#1
Silvestre Sampino, Adrian Mateusz Stankiewicz, Federica Zacchini, Joanna Goscik, Agnieszka Szostak, Artur Hugo Swiergiel, Gaspare Drago, Jacek Andrzej Modlinski, Grazyna Ewa Ptak
There is growing evidence that advanced maternal age is a risk factor for neurological and neuropsychiatric disorders in offspring. However, it remains unclear whether the altered brain programming induced by advanced maternal age is mediated by pre- or postnatal factors. Here, a mouse model was used to investigate whether pregnancy at advanced age may provoke behavioral and brain gene expression changes in offspring. Swiss Albino mice conceived by 3-month-old males and either 15-18-month-old (n = 11) or 3-month-old control females (n = 5), were delivered by cesarean section, fostered after birth by 3-month-old dams and subjected to a battery of behavioral tests...
February 22, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28289719/type-i-interferons-regulate-susceptibility-to-inflammation-induced-preterm-birth
#2
Monica Cappelletti, Pietro Presicce, Matthew J Lawson, Vandana Chaturvedi, Traci E Stankiewicz, Simone Vanoni, Isaac T W Harley, Jaclyn W McAlees, Daniel A Giles, Maria E Moreno-Fernandez, Cesar M Rueda, Paranth Senthamaraikannan, Xiaofei Sun, Rebekah Karns, Kasper Hoebe, Edith M Janssen, Christopher L Karp, David A Hildeman, Simon P Hogan, Suhas G Kallapur, Claire A Chougnet, Sing Sing Way, Senad Divanovic
Preterm birth (PTB) is a leading worldwide cause of morbidity and mortality in infants. Maternal inflammation induced by microbial infection is a critical predisposing factor for PTB. However, biological processes associated with competency of pathogens, including viruses, to induce PTB or sensitize for secondary bacterial infection-driven PTB are unknown. We show that pathogen/pathogen-associated molecular pattern-driven activation of type I IFN/IFN receptor (IFNAR) was sufficient to prime for systemic and uterine proinflammatory chemokine and cytokine production and induction of PTB...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28276271/an-anthocyanin-enriched-extract-from-strawberries-delays-disease-onset-and-extends-survival-in-the-hsod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis
#3
Aimee N Winter, Erika K Ross, Heather M Wilkins, Trisha R Stankiewicz, Tyler Wallace, Keith Miller, Daniel A Linseman
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting from the death of motor neurons in the brain, brain stem, and spinal cord. Several processes such as oxidative stress, neuroinflammation, and neuronal apoptosis, contribute to disease progression. Anthocyanins are flavonoid compounds derived from fruits and vegetables that possess antioxidant, anti-inflammatory, and anti-apoptotic abilities. Thus, these unique compounds may provide therapeutic benefit for the treatment of ALS...
March 9, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28251352/haploinsufficiency-of-the-e3-ubiquitin-protein-ligase-gene-trip12-causes-intellectual-disability-with-or-without-autism-spectrum-disorders-speech-delay-and-dysmorphic-features
#4
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komara, Bassam R Ali, Elizabeth Roeder, Laura McAuley, Daniel S Roy, David K Manchester, Pilar Magoulas, Lauren E King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A Ward, Sau Wai Cheung, Weimin Bi, Christine M Eng, James R Lupski, Yaping Yang, Ankita Patel, Seema R Lalani, Fan Xia, Paweł Stankiewicz
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28247551/characterization-of-chromosomal-abnormalities-in-pregnancy-losses-reveals-critical-genes-and-loci-for-human-early-development
#5
Yiyun Chen, Justin Bartanus, Desheng Liang, Hongmin Zhu, Amy M Breman, Janice L Smith, Hua Wang, Zhilin Ren, Ankita Patel, Pawel Stankiewicz, David S Cram, Sau Wai Cheung, Lingqian Wu, Fuli Yu
Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2186 product of conception (POC) samples were tested for copy number variations (CNVs) at two clinical diagnostic centers using whole genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets...
February 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/28194958/compound-specific-sulfur-isotope-analysis-of-petroleum-gases
#6
Ward Said-Ahmad, Kenneth Wong, Monaca Mcnall, Lubna Shawar, Tracey Jacksier, Courtney Turich, Artur Stankiewicz, Alon Amrani
We describe a simple, sensitive, and robust method for sulfur isotope ratio ((34)S/(32)S) analysis of ppm-level organic sulfur compounds (OSCs) in the presence of percent-level H2S. The method uses a gas chromatograph (GC) coupled with a multicollector inductively coupled plasma mass spectrometer (MC-ICPMS). The GC, equipped with a gas inlet and a valve that transfers the H2S to a thermal conductivity detector (TCD), enables a precise heart cut and prevents the saturation of the MC-ICPMS. The sensitivity and accuracy of the method are better than 0...
February 13, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28168676/erratum-to-the-cognitive-and-behavioral-phenotypes-of-individuals-with-chrna7-duplications
#7
M A Gillentine, L N Berry, R P Goin-Kochel, M A Ali, J Ge, D Guffey, J A Rosenfeld, V Hannig, P Bader, M Proud, M Shinawi, B H Graham, A Lin, S R Lalani, J Reynolds, M Chen, T Grebe, C G Minard, P Stankiewicz, A L Beaudet, C P Schaaf
No abstract text is available yet for this article.
February 6, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#8
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28115913/a-systematic-review-of-experiences-of-advanced-practice-nursing-in-general-practice
#9
Michael Jakimowicz, Danielle Williams, Grazyna Stankiewicz
BACKGROUND: Despite efforts to achieve conceptual clarity, advanced practice nursing continues to reside in a liminal space, unable to secure ongoing recognition as a viable means of healthcare delivery. This is particularly evident in general practice where advanced practice role development is more fluid and generally less supported by the hierarchical structures evident in the hospital system. This review synthesises published qualitative studies reporting experiences of advanced practice nursing in general practice...
2017: BMC Nursing
https://www.readbyqxmd.com/read/28104052/assessment-of-a-chronic-disease-self-management-program-to-increase-physical-activity-of-adults-with-severe-mental-illness
#10
Julia Ringgold Strong, Gail Schoen Lemaire, Lyn Stankiewicz Murphy
Individuals with severe mental illness (SMI) experience excessive co-morbidities and early mortality. Self-management programs have the potential to increase physical activity levels of individuals with SMI and reduce the incidence of co-morbidities. The purpose of this quality improvement project was to assess a chronic disease self-management program (CDSMP) to increase physical activity of adults with SMI measured by daily steps tracked with a pedometer. Results of data analysis indicated no statistically significant difference in steps across the six-week program...
February 2017: Archives of Psychiatric Nursing
https://www.readbyqxmd.com/read/28100092/sample-size-requirements-for-one-year-treatment-effects-using-deep-gray-matter-volume-from-3t-mri-in-progressive-forms-of-multiple-sclerosis
#11
Gloria Kim, Renxin Chu, Fawad Yousuf, Shahamat Tauhid, Lynn Stazzone, Maria K Houtchens, James M Stankiewicz, Christopher Severson, Dorlan Kimbrough, Francisco J Quintana, Tanuja Chitnis, Howard L Weiner, Brian C Healy, Rohit Bakshi
OBJECTIVE: The subcortical deep gray matter (DGM) develops selective, progressive, and clinically relevant atrophy in progressive forms of multiple sclerosis (PMS). This patient population is the target of active neurotherapeutic development, requiring the availability of outcome measures. We tested a fully automated MRI analysis pipeline to assess DGM atrophy in PMS. DESIGN/METHODS: Consistent 3D T1-weighted high-resolution 3T brain MRI was obtained over one year in 19 consecutive patients with PMS [15 secondary progressive, 4 primary progressive, 53% women, age (mean±SD) 50...
February 2, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28087763/circadian-kinetics-of-cell-cycle-progression-in-adult-neurogenic-niches-of-a-diurnal-vertebrate
#12
Veronica Akle, Alexander J Stankiewicz, Vasili Kharchenko, Lili Yu, Peter V Kharchenko, Irina V Zhdanova
The circadian system may regulate adult neurogenesis via intracellular molecular clock mechanisms or by modifying the environment of neurogenic niches, with daily variation in growth factors or nutrients depending on the animal's diurnal or nocturnal lifestyle. In a diurnal vertebrate, zebrafish, we studied circadian distribution of immunohistochemical markers of the cell division cycle (CDC) in 5 of the 16 neurogenic niches of adult brain, the dorsal telencephalon, habenula, preoptic area, hypothalamus, and cerebellum...
February 15, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28056976/a-novel-approach-to-genome-wide-association-analysis-identifies-genetic-associations-with-primary-biliary-cholangitis-and-primary-sclerosing-cholangitis-in-polish-patients
#13
Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik, Grzegorz Boryczka, Michal Wasilewicz, Irena Ciecko-Michalska, Malgorzata Ferenc, Maria Janiak, Alina Kanikowska, Rafal Stankiewicz, Marek Hartleb, Tomasz Mach, Marian Grzymislawski, Joanna Raszeja-Wyszomirska, Ewa Wunsch, Tomasz Bobinski, Michal Mikula, Jerzy Ostrowski
BACKGROUND: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population. METHODS: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals. Allelotyping employed a pooled-DNA sample-based genome-wide association study (GWAS) approach, using Illumina Human Omni2...
January 6, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28045789/imaging-and-measurement-of-the-preretinal-space-in-vitreomacular-adhesion-and-vitreomacular-traction-by-a-new-spectral-domain-optical-coherence-tomography-analysis
#14
Marcin Stopa, Elżbieta Marciniak, Piotr Rakowicz, Agnieszka Stankiewicz, Tomasz Marciniak, Adam Dąbrowski
PURPOSE: To evaluate a new method for volumetric imaging of the preretinal space (also known as the subhyaloid, subcortical, or retrocortical space) and investigate differences in preretinal space volume in vitreomacular adhesion (VMA) and vitreomacular traction (VMT). METHODS: Nine patients with VMA and 13 with VMT were prospectively evaluated. Automatic inner limiting membrane line segmentation, which exploits graph search theory implementation, and posterior cortical vitreous line segmentation were performed on 141 horizontal spectral domain optical coherence tomography B-scans per patient...
December 30, 2016: Retina
https://www.readbyqxmd.com/read/27958618/morphokinetic-parameters-as-a-source-of-information-concerning-embryo-developmental-and-implantation-potential
#15
Robert Milewski, Jan Czerniecki, Agnieszka Kuczyńska, Bożena Stankiewicz, Waldemar Kuczyński
OBJECTIVES: The aim of the study was to present the results of time-lapse observation and to verify whether morphokinetic parameters are associated with embryo developmental and implantation potential. MATERIAL AND METHODS: The analysed data concern the development of 1,060 embryos, 898 of which (84.72%) achieved the blastocyst stage and 307 were transferred into the uterine cavity. As a result, 126 (41.04%) biochemical pregnancies and 109 (35.50%) clinical pregnancies were observed...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27925711/evaluation-of-susceptibility-of-polymer-and-rubber-materials-intended-into-contact-with-drinking-water-on-biofilm-formation
#16
Maciej Szczotko, Agnieszka Stankiewicz, Małgorzata Jamsheer-Bratkowska
Background: Plumbing materials in water distribution networks and indoor installations are constantly evolving. The application of new, more economical solutions with plastic materials eliminates the corrosion problems, however, do not fully protect the consumer against secondary microbial contamination of water intended for human consumption caused by the presence of a biofilm on the inner surface of materials applied. National Institute of Public Health - National Institute of Hygiene conducts research aimed at a comprehensive assessment of this type of materials, resulting their further marketing authorization in Poland...
2016: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/27896425/probability-and-pattern-of-occult-cervical-lymph-node-metastases-in-primary-parotid-carcinoma
#17
Dominik Stodulski, Bogusław Mikaszewski, Hanna Majewska, Piotr Wiśniewski, Czesław Stankiewicz
The present study was undertaken to evaluate real probability and pattern of cervical occult lymph node metastases (OLNM) in primary parotid carcinoma (PPC). We carried out a retrospective analysis of 66 patients treated in years 1992-2010 due to PPC, who underwent elective neck dissection (END). In search of risk factors for OLNM, we analysed the following parameters: age, sex, pT-Status, tumour size, skin invasion, facial nerve palsy, tumour fixation, extraparotid extension, localization, grade, histology, intra/periparotid LN metastases (IPLNM)...
March 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27882810/what-has-changed-in-the-prevalence-of-hypertension-in-dialyzed-children-during-the-last-decade
#18
Marcin Tkaczyk, Małgorzata Stańczyk, Monika Miklaszewska, Katarzyna Zachwieja, Ryszard Wierciński, Roman Stankiewicz, Agnieszka Firszt-Adamczyk, Jacek Zachwieja, Halina Borzęcka, Ilona Zagożdżon, Beata Leszczyńska, Anna Medyńska, Piotr Adamczyk, Maria Szczepańska, Wojciech Fendler
BACKGROUND: Hypertension very often accompanies progression of chronic kidney disease (CKD) in children. A cross-sectional analysis of hypertension prevalence in dialyzed children in Poland was designed with a comparison with the data previously recorded 10 years earlier. METHODS: Two cohorts of children were analyzed: 59 subjects dialyzed in 2013, and 134 children from the previous study performed in 2003 that were reevaluated according to the current methodology...
November 24, 2016: Renal Failure
https://www.readbyqxmd.com/read/27882178/modulatory-effects-of-feeding-pregnant-and-lactating-mice-rhodiola-kirilowii-extracts-on-the-immune-system-of-offspring
#19
Sławomir Lewicki, Barbara Joanna Bałan, Ewa Skopińska-Różewska, Robert Zdanowski, Marta Stelmasiak, Łukasz Szymański, Wanda Stankiewicz
Plants of Rhodiola genus are medicinal herbs that have a number of therapeutic properties, including anti-inflammatory and immunomodulatory activity. The present study aimed to determine whether the use Rhodiola kirilowii as an immunostimulant during pregnancy has an adverse effect on the development of the offspring immune system. Following mating, pregnant mice were placed in three groups that were fed during pregnancy and lactation with R. kirilowii aqueous extract (RKW; 20 mg/kg), R. kirilowii 50% hydro-alcoholic extract (RKW-A; 20 mg/kg) or water (control group), receiving water...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27880765/mechanisms-for-complex-chromosomal-insertions
#20
Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Paweł Stankiewicz, James R Lupski
Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains. Little is known about the molecular mechanisms of their formation. We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH)...
November 2016: PLoS Genetics
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